Winter 2017 Newsletter

Winter 2017 OUR MISSION Our goal in the DISCOVER Program (The Diagnosis Initiative: Seeking Care and Opportunity with Vision for Exploration and Research) is to integrate excel- lent clinical care with cutting-edge research to make a diagnosis more quickly and to develop novel, individualized treatments for patients. Moving Beyond Diagnosis Toward Innovative Treatment: A Family’s Path to the Answers sis of CIT-related primary microcephaly. It M y name is Iqra and my husband’s was nice to have answers, because it has name is Bilal. Minahil is our 3-year old certainly been painful as a parent not to daughter. She was born, with a rare brain know why or how something like this could malformation, microcephaly and lissen- happen to our child. cephaly. When Minahil was born, a geneti- cist ran many tests for almost 2 years with- W e met with Dr. Chung and Ms. Chil- out results. My husband and I became ton again, who told us about how we can weary and almost gave up on our search move for answers because it was challenging forward if enough to have a child with a disability in we want- addition to the multiple therapies she re- ed to quires. have more chil- O ne day I was searching online for oth- dren. It is er kids with similar medical issues as Mi- now up to nahil. I came across a mother who had a my hus- Facebook page about her son with micro- band and cephaly. I contacted her and we chatted I on how for a while and she told me how they had we want found the cause of her son’s diagnosis. to pro- They too had tried everything they could, ceed. Dr. until they met a doctor who was able to Chung find the answer. Luckily, we live in New and Ms. Jersey and this family lives in New York. Chilton The world is truly quite small. have been so T he doctor they referred us to was Dr. support- Chung at the Discover program in NY. I ive throughout the whole process. We have guess we were meant to find answers af- nothing but good and loving words for ter all. My husband and I went to NY and them. We thank the family who led us to met up with Dr. Chung and genetic coun- Dr. Chung and our daughter’s diagnosis. selor, Ilana Chilton. We shared Minahil’s While there are still questions as to what history. Our blood was tested and after a Minahil’s development will look like, we are couple of months the results came back. thankful that things are a little bit less un- We learned that we are both carriers of the known. CIT gene which caused Minahil’s diagno- Our Journey To Diagnosis baby boy be diagnosed with a disease daughters diagnosed with SPG47 in E than had a traumatic entry into this that was so rare, only 9 cases existed December 2016. In the past year, we world with shoulder dystocia, nuchal on the entire planet?! Because of the have all stayed in contact as it related cord, low sugar levels, and periodic condition’s rarity, we learned that little to our children’s ailments and progres- breathing. As he grew we started to to no research was being done and no sions, everyday life with SPG47, notice him struggling to do things that known future outcomes were available. spreading awareness of SPG47, and seemed to come easier for other ba- All we learned was the other children fundraising efforts for a treatment and/ bies. At 10-months, Ethan started ex- were older, had severe intellectual dis- or cure. CureSPG47 has put together periencing breath-holding spells ability, and some were wheelchair- a brilliant medical research team that is prompting an MRI bound by their teens. currently working on two research pro- where they found a cer- Diagnosis We were devastated. In jects for SPG47: Drug Screening and ebellar brain bleed, a our research, we came Gene Therapy. With a combined effort, mildly diffuse corpus Initiative: across an article about they have raised almost $450,000 in callosum, and de- Seeking two 3-year old girls in just the first year. Although we ulti- creased periventricular the U.S., who were re- mately need $4 million, this achieve- white matter. He began Care and cently diagnosed with ment has funded the early stages of physical, speech and Opportunity with SPG47. Fortunately, those two research projects, and will occupational therapy. At just one month prior to hopefully improve the chances of re- 18-months, Ethan was Vision for Ethan’s diagnosis, the ceiving grants to continue the research finally crawling and family created a non- efforts. The onset is early childhood, transitioning to sitting, Exploration and profit organization called so time is of the essence. We will not but was still nonverbal Research CureSPG47. The goal rest until there is a cure! with minimal babbling. of CureSPG47 was to Ethan was diagnosed with autism at 22 study and seek a cure for SPG47. W ere it not for the DISCOVER -months old. In April 2016, we came They aim to improve the quality of life Program, we would not know about across the Discover Program at Co- for children impacted by SPG47, by this degenerative disease. We are so lumbia University on Facebook, which accelerating the research for a cure thankful to the DISCOVER team for was doing a study of the SLC1A4 gene and/or treatment. We immediately helping us find a diagnosis, and we and the link between an Ashkenazi reached out to them and received a have since recommended them to sev- Jewish parent and microcephaly. response just a few hours later. Life eral other families who are seeking the Ethan is half-Jewish (paternal side), changed for the worse after the diag- same. and his head circumference evidenced nosis, but shortly thereafter, changed microcephaly. We agreed to do the for the better when we united with We would like to acknowledge whole exome sequencing analysis of- these wonderful and determined par- Iqra & Bilal Malik and fered through DISCOVER to see if we ents. They refused to accept the bleak could get a clearer answer to Ethan’s prognosis their children faced, so they Matt & Suchan Rosenberg for challenges. On December 23, 2016, decided to fight, and we decided to join generously sharing Minahil and we got a call from Dr. Wendy Chung, them. Since Ethan’s diagnosis, there Ethan’s stories with us. the director of the DISCOVER Pro- were two additional families who had gram. She shared the news that Ethan tested negative for the SLC1A4 gene mutation, but tested positive for the AP1B4 gene mutation, which results in an ultra-rare genetic neurological brain disorder called Hereditary Spastic Par- aplegia Type 47 (SPG47). A lthough we were looking for answers and knew there was a possibility of a genetic finding, we were not ready for the news we received. After a few hours of disbelief and tears, we immediately began to research SPG47, and what we found was shocking. There were only 9 known cases of SPG47 worldwide, all of which resided in the Middle East!!! How could our sweet Page 2 What does it mean to cope with or without a diagnosis? It means that you may feel discouraged, sad, angry, confused, tearful, determined, empowered or motivat- ed to soldier on. You may be frustrated when you find out that the diagnosis is a rare condition without a cure — yet. You could feel relief when you are able to name the diagnosis after seeing a multitude of medical professionals and not having “the answer”. You could feel disappointment that you are perhaps closer to a diagnosis, however you are not quite there. All these changing emotions can cause you and your family to feel as if you’re on a rollercoaster that you can’t get off. There are often a lot of questions in your own mind and from others. It is important to recognize that you have the right to keep as much or as little information to yourself as you wish and that whatever you decide to share is okay. For some, finding the answer helps them find or create a community of like-minded indi- viduals with similar, if not the same, medical challenges. For rare genetic conditions, there may be only a handful of others who have the same constellation of symptoms, and their mutation may be different than yours or your child’s. Finding a support community either in person or on-line (or both) can be extremely reassuring when and if medical and developmental challenges become isolating. Struggling with a rare disease can feel all consuming. Take time to do and be something other than “the person who is different” or “the parent with a child who is challenged”. Be yourself — separate from the diagnosis or the symptoms. Allow yourself to be in the world and not be defined by your or your child’s complicated care needs. It can feel as though others do not understand what it means to care for a child with chronic issues or live with chronic symptoms yourself. They don’t. It doesn’t mean they can’t, however it also doesn’t mean that you have to be the one to educate them. Setting boundaries for yourself and/or your child will likely be one of the most important things to do moving forward. Self-care and reaching out for support will be essential.

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